PTEN Hamartoma Tumor Syndrome and Immune Dysregulation
Carriers of a pathogenic germline mutations in the PTEN gene, a well-known tumor suppressor gene, are at increased risk of multiple benign and malignant tumors, e.g. breast, thyroid, endometrial and colon cancer. This is called PTEN Hamartomous Tumor Syndrome (PHTS). PHTS patients may also have an i...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2019-02-01
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| Series: | Translational Oncology |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1936523318304704 |
| _version_ | 1811216170846519296 |
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| author | Marc Eissing Lise Ripken Gerty Schreibelt Harm Westdorp Marjolijn Ligtenberg Romana Netea-Maier Mihai G. Netea I. Jolanda M. de Vries Nicoline Hoogerbrugge |
| author_facet | Marc Eissing Lise Ripken Gerty Schreibelt Harm Westdorp Marjolijn Ligtenberg Romana Netea-Maier Mihai G. Netea I. Jolanda M. de Vries Nicoline Hoogerbrugge |
| author_sort | Marc Eissing |
| collection | DOAJ |
| description | Carriers of a pathogenic germline mutations in the PTEN gene, a well-known tumor suppressor gene, are at increased risk of multiple benign and malignant tumors, e.g. breast, thyroid, endometrial and colon cancer. This is called PTEN Hamartomous Tumor Syndrome (PHTS). PHTS patients may also have an increased risk of immunological dysregulation, such as autoimmunity and immune deficiencies. The effects of PTEN on the immune system have been studied in murine knockout models demonstrating that loss of PTEN function leads to dysregulation of the immune response. This results in susceptibility to autoimmunity, impaired B cell class switching with subsequent hypogammaglobulinemia. Additionally, a decreased ability of dendritic cells to prime CD8+ T cells was observed, leading to impaired tumor eradication. Immune dysfunction in PHTS patients has not yet been extensively studied but might be a manageable contributing factor to the increased cancer risk in PHTS. |
| first_indexed | 2024-04-12T06:34:41Z |
| format | Article |
| id | doaj.art-8405faa66c6646a08f611ea794e52c69 |
| institution | Directory Open Access Journal |
| issn | 1936-5233 |
| language | English |
| last_indexed | 2024-04-12T06:34:41Z |
| publishDate | 2019-02-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Translational Oncology |
| spelling | doaj.art-8405faa66c6646a08f611ea794e52c692022-12-22T03:43:55ZengElsevierTranslational Oncology1936-52332019-02-01122361367PTEN Hamartoma Tumor Syndrome and Immune DysregulationMarc Eissing0Lise Ripken1Gerty Schreibelt2Harm Westdorp3Marjolijn Ligtenberg4Romana Netea-Maier5Mihai G. Netea6I. Jolanda M. de Vries7Nicoline Hoogerbrugge8Department of Human Genetics, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525, GA, Nijmegen, The Netherlands; Radboud Institute for Molecular Life Sciences, Geert Grooteplein Zuid 28, 6525, GA, Nijmegen, The NetherlandsDepartment of Human Genetics, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525, GA, Nijmegen, The NetherlandsRadboud Institute for Molecular Life Sciences, Geert Grooteplein Zuid 28, 6525, GA, Nijmegen, The Netherlands; Department of Tumor Immunology, Radboud University Medical Center, Geert Grooteplein Zuid 28, 6525, GA, Nijmegen, The NetherlandsRadboud Institute for Molecular Life Sciences, Geert Grooteplein Zuid 28, 6525, GA, Nijmegen, The Netherlands; Department of Tumor Immunology, Radboud University Medical Center, Geert Grooteplein Zuid 28, 6525, GA, Nijmegen, The NetherlandsRadboud Institute for Molecular Life Sciences, Geert Grooteplein Zuid 28, 6525, GA, Nijmegen, The Netherlands; Department of Pathology, Radboud University Medical Center, Geert Grooteplein Zuid1 0, 6525, GA, Nijmegen, The NetherlandsDepartment of Internal Medicine and Radboud Center for Infectious Diseases, Radboud University Medical Center, Geert Grooteplein 8, 6525, GA, Nijmegen, The Netherlands; Department of Internal Medicine, Division of Endocrinology, Radboud University Medical Center, Geert Grooteplein 8, 6525, GA, Nijmegen, The Netherlands.Department of Internal Medicine and Radboud Center for Infectious Diseases, Radboud University Medical Center, Geert Grooteplein 8, 6525, GA, Nijmegen, The Netherlands; Department of Internal Medicine, Division of Endocrinology, Radboud University Medical Center, Geert Grooteplein 8, 6525, GA, Nijmegen, The Netherlands.Radboud Institute for Molecular Life Sciences, Geert Grooteplein Zuid 28, 6525, GA, Nijmegen, The Netherlands; Department of Tumor Immunology, Radboud University Medical Center, Geert Grooteplein Zuid 28, 6525, GA, Nijmegen, The Netherlands; Department of Medical Oncology, Radboud University Medical Center, Geert Grooteplein 8, 6525, GA, Nijmegen, The NetherlandsDepartment of Human Genetics, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525, GA, Nijmegen, The Netherlands; Radboud Institute for Molecular Life Sciences, Geert Grooteplein Zuid 28, 6525, GA, Nijmegen, The Netherlands; Address all correspondence to: N. Hoogerbrugge, Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Geert Grooteplein Zuid 28, 6525, GA, Nijmegen, The Netherlands.Carriers of a pathogenic germline mutations in the PTEN gene, a well-known tumor suppressor gene, are at increased risk of multiple benign and malignant tumors, e.g. breast, thyroid, endometrial and colon cancer. This is called PTEN Hamartomous Tumor Syndrome (PHTS). PHTS patients may also have an increased risk of immunological dysregulation, such as autoimmunity and immune deficiencies. The effects of PTEN on the immune system have been studied in murine knockout models demonstrating that loss of PTEN function leads to dysregulation of the immune response. This results in susceptibility to autoimmunity, impaired B cell class switching with subsequent hypogammaglobulinemia. Additionally, a decreased ability of dendritic cells to prime CD8+ T cells was observed, leading to impaired tumor eradication. Immune dysfunction in PHTS patients has not yet been extensively studied but might be a manageable contributing factor to the increased cancer risk in PHTS.http://www.sciencedirect.com/science/article/pii/S1936523318304704 |
| spellingShingle | Marc Eissing Lise Ripken Gerty Schreibelt Harm Westdorp Marjolijn Ligtenberg Romana Netea-Maier Mihai G. Netea I. Jolanda M. de Vries Nicoline Hoogerbrugge PTEN Hamartoma Tumor Syndrome and Immune Dysregulation Translational Oncology |
| title | PTEN Hamartoma Tumor Syndrome and Immune Dysregulation |
| title_full | PTEN Hamartoma Tumor Syndrome and Immune Dysregulation |
| title_fullStr | PTEN Hamartoma Tumor Syndrome and Immune Dysregulation |
| title_full_unstemmed | PTEN Hamartoma Tumor Syndrome and Immune Dysregulation |
| title_short | PTEN Hamartoma Tumor Syndrome and Immune Dysregulation |
| title_sort | pten hamartoma tumor syndrome and immune dysregulation |
| url | http://www.sciencedirect.com/science/article/pii/S1936523318304704 |
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